Current Neurology and Neuroscience Reports

, Volume 12, Issue 4, pp 445–455 | Cite as

Genetics of Epilepsy and Relevance to Current Practice

  • Roberto Michelucci
  • Elena Pasini
  • Patrizia Riguzzi
  • Lilia Volpi
  • Emanuela Dazzo
  • Carlo Nobile
Epilepsy (CW Bazil, Section Editor)


Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and SCN1A-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and Dravet syndrome. Particular attention is devoted to a form of familial focal epilepsies, autosomal-dominant lateral temporal epilepsy, which is a model of non-ion genetic epilepsies. This condition is associated with mutations of the LGI1 gene, whose protein is secreted from the neurons and exerts its action on a number of targets, influencing cortical development and neuronal maturation.


Genetic epilepsies Progressive myoclonus epilepsies Dravet syndrome SCN1A-related phenotypes Autosomal-dominant lateral temporal epilepsy LGI1 mutations 



No potential conflicts of interest relevant to this article were reported.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Roberto Michelucci
    • 1
  • Elena Pasini
    • 1
  • Patrizia Riguzzi
    • 1
  • Lilia Volpi
    • 1
  • Emanuela Dazzo
    • 2
  • Carlo Nobile
    • 2
  1. 1.Unit of Neurology, IRCCS Institute of Neurological SciencesBellaria HospitalBolognaItaly
  2. 2.CNR Institute of NeurosciencesPadovaItaly

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